| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0445
|
|
siRNA Name: | P18
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | AGUAAAAGAUGUCACAAGA
|
|
ASP-siRNA (As strand 3'->5'): | AGUAAAAGAUGUCACAACA
|
|
Mismatch position in siRNA: | C2G |
| Gene Information |
Gene Name | Presenilin1 (PSEN1) |
|
Target Sequence (5'->3'): | UUCAUUUUCUACAGUGUUCUGGUUGGUAAAGCCUCAG
|
|
Wild allele (5'->3'): | UCAUUUUCUACAGUGUUCU
|
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Mutant allele (5'->3'): | UCAUUUUCUACAGUGUUGU
|
|
Position of siRNA on target gene: | 1441-1459
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000021.3 |
| Cytogenic location: | 14q24.2 |
| Chromosomal coordinates: | 14:73,603,142-73,690,398 |
| UniProt ID: | P49768 |
| HUGO ID: | 9508 |
|
Reference SNp(RefSNP): | rs63750886 |
| Disease/Mutation information |
Target Mutation: | c.811C>G, p.Leu271Val
|
|
Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_007386.2:g.66602C>G
|
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Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Alzheimers disease |
| Clinical Resources |
ClinVar ID: | 98106 |
|
KEGG disease ID: | H00056 |
|
OMIM ID: | 104300 |
|
COSMIC: | PSEN1 |
|
DECIPHER: | PSEN1 |
|
GeneTests: | PSEN1 |
| ASP siRNA details |
Mutant allele (5'->3'): | UCAUUUUCUACAGUGUUGU
|
|
ASP-siRNA (As strand 3'->5'): | AGUAAAAGAUGUCACAACA
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 80
|
|
Wild allele (5'->3'): | UCAUUUUCUACAGUGUUCU
|
|
ASP-siRNA (As strand 3'->5'): | AGUAAAAGAUGUCACAACA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 22
|
|
Relative difference: | 58
|
| Wild siRNA details |
Wild allele (5'->3'): | UCAUUUUCUACAGUGUUCU
|
|
Wild siRNA (As strand 3'->5'): | AGUAAAAGAUGUCACAAGA
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | UCAUUUUCUACAGUGUUCU
|
|
ASP-siRNA (As strand 3'->5'): | AGUAAAAGAUGUCACAACA
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HeLa |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Chemically synthesized (Phosphoramidite method) |
| Post-transfection duration: | 48 hours |
| Concentration used: | 1.5microL |
| Reference: | 21559198 |
| Delivery method: | Transfection |
'| Article title: | Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference. |
'| Authors: | Sierant M, Paduszynska A, Kazmierczak-Baranska J, Nacmias B, Sorbi S, Bagnoli S, Sochacka E, Nawrot B. |
'| Journal Reference: | Int J Alzheimers Dis. 2011 Apr 7;2011:809218. doi: 10.4061/2011/809218. |
'
